云南汉族酒精依赖综合征与ADH2、ALDH2基因多态性的关联研究

Association Analysis of Alcohol Dependence Syndrome among Han Population in Yunnan with Genetic Polymorphisms of ADH2 and ALDH2

目的了解乙醇脱氢酶2(ADH2)和乙醛脱氢酶2(ALDH2)的不同基因型及等位基因频率在云南汉族酒精依赖综合征患者组和健康对照组的分布差异。方法应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)分析法,对ADH2基因和ALDH2基因的特定片段进行特异性扩增,限制性内切酶酶切,非变性聚丙烯酰胺凝胶垂直电泳检测,结合硝酸银染色法判定基因型。结果 ADH2基因存在2种等位基因(ADH2*1、ADH2*2)和3种基因型(ADH2*1/*1、*1/*2和*2/*2),2种等位基因的分布在两组的差异有统计学意义(P<0.05),ADH2*2等位基因频率在酒精依赖综合征患者组降低,3种基因型的分布在两组无显著差异(P>0.05)。ALDH2基因存在2种等位基因(ALDH2*1、ALDH2*2)和3种基因型(ALDH2*1/*1、*1/*2和*2/*2),2种等位基因和3种基因型的分布在两组中的差异均有统计学意义(P<0.05),酒精依赖综合征患者组AL-DH2*1/*2基因型和ALDH2*2等位基因频率降低。结论 ADH2*2等位基因和ALDH2*2等位基因对于酒精依赖综合征发病有保护作用。

Objective To study the difference of genotype and allele frequencies of alcohol dehydrogenase2（ADH2） and aldehyde dehydrogenase 2 （ALDH2） between alcoholic dependent group and healthy control group among the Han population in Yunnan province. Methods The portions of ADH2 and ALDH2 gene were amplified by using polymerase chain reaction -restricted fragments length polymorphism technique（ PCR -RFLP）. An aliquot of the amplified DNA fragments was treated with restriction end nucleases. The amplified products were electrophoresesed with polyacrylamide gels and were stained with argentine. Results ADH2 gene existed two alleles （ADH2 ＊ 1 ,ADH2 ＊ 2） and three genotypes （ ADH2 ＊ 1/＊ 1, ＊ 1/ ＊ 2, ＊ 2/＊ 2）. The frequency of allele in two groups had statistical significant difference（ P 〈 0.05 ）. The frequency of ADH2 ＊ 2 allele in alcohol dependent group was lower than that in another group. The frequency of genotype in two groups had no statistical significant difference （ P 〉 0.05 ）. Two allele （ ALDH2 ＊ 1, ALDH2 ＊ 2 ） and three genotypes（ALDH2 ＊ 1/＊ 1, ＊ 1/＊ 2, ＊ 2/＊ 2） existed in ALDH2 gene. The frequency of allele and genotype in two groups had statistical significant difference （P 〈 0.05）. The frequency of ALDH2 ＊ 1/＊ 2 genotype and ALDH2 ＊ 2 allele in alcohol dependent group was lower than that of the compared group. Conclusion Allele ADH2 ＊ 2 and ALDH2 ＊ 2 may be protective factors to alcohol dependence syndrome.